An autosomal dominant multi-anomaly syndrome (OMIM:176450) characterised by partial sacral agenesis* with intact first sacral vertebra (‘sickle-shaped sacrum’), a presacral mass*, and anorectal malformation*.
*The defects that comprise the so called Currarino triad.
Other findings Renal–e.g., urinary incontinence, gynaecologic–e.g., dysmenorrhoea, dyspareunia, Hirschsprung disease, pelvic abscess, malignant degeneration of pre-sacral teratoma, Escherichia coli ascending meningitis and spinal cord tethering, recurrence of benign teratoma, sacral anaesthesia and headaches precipitated by coughing or straining.
Molecular pathology Defects in MNX1, which encodes a nuclear transcription factor involved in pancreas development and function, cause Currarino syndrome.
Synonyms Currarino triad, anorectal malformation–sacrorectal malformations–presacral mass, sacral agenesis—hereditary—with presacral mass—anterior meningocele—and/or teratoma—and anorectal malformation, sacral agenesis syndrome